Newburgh teen girl waging courageous battle

Friday

TOWN OF NEWBURGH — When Brianna Skriver turned 15 on March 5, she beat the odds once again.

Brianna suffers from a form of Batten disease, a genetic disorder of the nervous system that is always fatal. Brianna’s life expectancy had been 8 to 12 years.

When the Times Herald-Record first wrote about Brianna in 2012, her disease still was a mystery, undiagnosed despite the efforts of some of the nation’s best medical institutions. The National Institutes of Health finally provided an answer.

Despite having a diagnosis now, the future remains uncertain for Brianna and her mom, Tammy Skriver. There is no treatment or cure for Batten disease. Last month, the Food and Drug Administration approved the first treatment for any form of the illness, an enzyme replacement therapy that will not help the form Brianna has.

While there is a trial for a treatment that would help Brianna, she is not eligible for it because her disease has progressed too far, Tammy Skriver says.

Until age 5, Brianna Skriver was a healthy, athletic, soccer-loving girl. But she began falling a lot, and her mother noticed a difference in the way she ran. The disease progressed from there to the point where Brianna could not walk, talk or swallow, and she sometimes suffered seizures.

Medicaid pays for Brianna’s medical needs, and Tammy Skriver said she doesn’t know yet what effect changes in health-care laws being debated in Washington might have. She’d like to see a more universal health-care system. In Mississippi, where she knows another mom whose son has Batten disease, they cap doctor visits at 12 a year, she said.

It is hard for Tammy Skriver to get through an interview about her daughter without becoming emotional.

“As a mom, you want to be a role model,” she said. “I want to take her shopping, help pick out her prom dress, plan her wedding … But that will never happen between these two girls.”

Brianna has good days where she smiles and laughs, and others where she is “in a zone, blank,” Tammy Skriver said. More than anything else, the mother misses being able to talk to her daughter.